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Alkaptonuria and ochronosis.
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[Alkaptonuria and osteoarthritis. An experimental reproduction of primary human osteoarthritis].
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Ocular Ochronosis with Alkaptonuria. Report of a case.
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[Comparative biochemical studies of certain urinary metabolites in patients with the nephrotic syndrome, eye diseases, alkaptonuria, obstructive myocardiopathy, and cancer and in newborn infants].
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[Alkaptonuria. Considerations on 3 clinical cases].
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[Research on alkaptonuria and the care of the child].
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[Involvement of the tympanic membrane and ear ossicle system in ochronotic alkaptonuria].
Ochronotic alcaptonuria is a rare hereditary disease in which the metabolism of phenylalanine and tyrosine is disturbed, leading to accumulation and urinary excretion of homogentisic acid. Its affinity towards bradytroph tissues makes e.g. cartilage, tendons, sclera etc. become stained dark, hard and inflexible, leading to early arthrosis or ruptures of tendons. In the ENT literature mostly signs like darkening of the conchas, the septum or the larynx are mentioned, whereas involvements of the middle ear are rarely described. Such changes were seen in a 60-year old patient, who showed dark discolourations of his thickened tympanic membranes. He had a combined high-frequency hearing loss, the conductive component of which we explain as an increase of mass and changed elasticity. It may also be due to alterations of the ossicular chain. The case was demonstrated to direct the ENT specialist's attention to findings suspicious of ochronotic alcaptonuria and - on the other hand - to present photos of involved tympanic membranes, which in this kind we did not see in the literature.
[Alkaptonuria and ochronosis: presentation of a clinical case].
In the present work a case of alcaptonuric arthropathy is described. The rareness of such type of pathology has suggested us a re-examination of the ptrtaining literature; after a necessary introduction concerning the etiopathogenetic and anatomo-pathological part, we detailedly explain the clinico-diagnostical aspect. We subsequently document the case we had the opportunity to observe. Due to the seriousness of the articular involvement, we subjected it to radical surgical treatment, from which it enjoyed a real advantage.
[Incidence of alkaptonuria in relation to genetic isolation and degree of inbreeding in several selected localities in Slovakia (author's transl)].
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[Analysis of the causes of the relatively frequent incidence of alkaptonuria in Slovakia].
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Alkaptonuria: (a case report).
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[Clinical manifestation of alkaptonuria in relation to age (author's transl)].
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[Alkaptonuria. A brief outline of present-day knowledge of the biochemical aspects of the metabolic defect and pathogenesis of the disease (author's transl)].
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Anterior megalophthalmos associated with lamellar cataract on alkaptonuria.
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